143 related articles for article (PubMed ID: 10632110)
1. Diffusion-weighted magnetic resonance imaging in boys with neural cell adhesion molecule L1 mutations and congenital hydrocephalus.
Graf WD; Born DE; Shaw DW; Thomas JR; Holloway LW; Michaelis RC
Ann Neurol; 2000 Jan; 47(1):113-7. PubMed ID: 10632110
[TBL] [Abstract][Full Text] [Related]
2. Brainstem diffusion-weighted MRI in boys with L1CAM mutations.
Graf WD; Born DE; Shaw DW; Thomas JR; Holloway LW; Michaelis RC
Eur J Pediatr Surg; 1999 Dec; 9 Suppl 1():41-2. PubMed ID: 10661793
[No Abstract] [Full Text] [Related]
3. Genetic and clinical aspects of X-linked hydrocephalus (L1 disease): Mutations in the L1CAM gene.
Weller S; Gärtner J
Hum Mutat; 2001; 18(1):1-12. PubMed ID: 11438988
[TBL] [Abstract][Full Text] [Related]
4. A novel mutation in L1CAM gene in a Japanese patient with X-linked hydrocephalus.
Okamoto N; Wada Y; Kawabata H; Ishikiriyama S; Takahashi S
Jpn J Hum Genet; 1996 Dec; 41(4):431-7. PubMed ID: 9088116
[TBL] [Abstract][Full Text] [Related]
5. Pathological missense mutations of neural cell adhesion molecule L1 affect homophilic and heterophilic binding activities.
De Angelis E; MacFarlane J; Du JS; Yeo G; Hicks R; Rathjen FG; Kenwrick S; Brümmendorf T
EMBO J; 1999 Sep; 18(17):4744-53. PubMed ID: 10469653
[TBL] [Abstract][Full Text] [Related]
6. The pachygyria-polymicrogyria spectrum of cortical dysplasia in X-linked hydrocephalus.
Graf WD; Born DE; Sarnat HB
Eur J Pediatr Surg; 1998 Dec; 8 Suppl 1():10-4. PubMed ID: 9926316
[TBL] [Abstract][Full Text] [Related]
7. Identification of novel L1CAM mutations using fluorescence-assisted mismatch analysis.
Saugier-Veber P; Martin C; Le Meur N; Lyonnet S; Munnich A; David A; Hénocq A; Héron D; Jonveaux P; Odent S; Manouvrier S; Moncla A; Morichon N; Philip N; Satge D; Tosi M; Frébourg T
Hum Mutat; 1998; 12(4):259-66. PubMed ID: 9744477
[TBL] [Abstract][Full Text] [Related]
8. Somatic and germ line mosaicism and mutation origin for a mutation in the L1 gene in a family with X-linked hydrocephalus.
Du JS; Bason L; Woffendin H; Zackai E; Kenwrick S
Am J Med Genet; 1998 Jan; 75(2):200-2. PubMed ID: 9450886
[TBL] [Abstract][Full Text] [Related]
9. Prenatal molecular diagnosis of L1-spectrum disorders.
Finckh U; Gal A
Prenat Diagn; 2000 Sep; 20(9):744-5. PubMed ID: 11015704
[No Abstract] [Full Text] [Related]
10. Nine novel L1 CAM mutations in families with X-linked hydrocephalus.
MacFarlane JR; Du JS; Pepys ME; Ramsden S; Donnai D; Charlton R; Garrett C; Tolmie J; Yates JR; Berry C; Goudie D; Moncla A; Lunt P; Hodgson S; Jouet M; Kenwrick S
Hum Mutat; 1997; 9(6):512-8. PubMed ID: 9195224
[TBL] [Abstract][Full Text] [Related]
11. Multiple exon screening using restriction endonuclease fingerprinting (REF): detection of six novel mutations in the L1 cell adhesion molecule (L1CAM) gene.
Du YZ; Srivastava AK; Schwartz CE
Hum Mutat; 1998; 11(3):222-30. PubMed ID: 9521424
[TBL] [Abstract][Full Text] [Related]
12. [A family with X-linked hydrocephalus resulting from mutations in the neural cell adhesion molecule L1].
Maruta K; Ohi T; Ohdo S; Takechi T; Sakuragawa N; Matsukura S
Rinsho Shinkeigaku; 1996 Mar; 36(3):462-6. PubMed ID: 8741350
[TBL] [Abstract][Full Text] [Related]
13. The clinical spectrum of mutations in L1, a neuronal cell adhesion molecule.
Fransen E; Vits L; Van Camp G; Willems PJ
Am J Med Genet; 1996 Jul; 64(1):73-7. PubMed ID: 8826452
[TBL] [Abstract][Full Text] [Related]
14. Spectrum and detection rate of L1CAM mutations in isolated and familial cases with clinically suspected L1-disease.
Finckh U; Schröder J; Ressler B; Veske A; Gal A
Am J Med Genet; 2000 May; 92(1):40-6. PubMed ID: 10797421
[TBL] [Abstract][Full Text] [Related]
15. Hydrocephalus and intestinal aganglionosis: is L1CAM a modifier gene in Hirschsprung disease?
Parisi MA; Kapur RP; Neilson I; Hofstra RM; Holloway LW; Michaelis RC; Leppig KA
Am J Med Genet; 2002 Feb; 108(1):51-6. PubMed ID: 11857550
[TBL] [Abstract][Full Text] [Related]
16. The site of a missense mutation in the extracellular Ig or FN domains of L1CAM influences infant mortality and the severity of X linked hydrocephalus.
Michaelis RC; Du YZ; Schwartz CE
J Med Genet; 1998 Nov; 35(11):901-4. PubMed ID: 9832035
[TBL] [Abstract][Full Text] [Related]
17. A novel L1CAM mutation with L1 spectrum disorders.
Silan F; Ozdemir I; Lissens W
Prenat Diagn; 2005 Jan; 25(1):57-9. PubMed ID: 15662685
[TBL] [Abstract][Full Text] [Related]
18. [X-linked hydrocephalus syndrome].
Okamoto N
Ryoikibetsu Shokogun Shirizu; 2000; (30 Pt 5):47-8. PubMed ID: 11057138
[No Abstract] [Full Text] [Related]
19. L1 mediated homophilic binding and neurite outgrowth are modulated by alternative splicing of exon 2.
Jacob J; Haspel J; Kane-Goldsmith N; Grumet M
J Neurobiol; 2002 Jun; 51(3):177-89. PubMed ID: 11984840
[TBL] [Abstract][Full Text] [Related]
20. X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene.
Jouet M; Rosenthal A; Armstrong G; MacFarlane J; Stevenson R; Paterson J; Metzenberg A; Ionasescu V; Temple K; Kenwrick S
Nat Genet; 1994 Jul; 7(3):402-7. PubMed ID: 7920659
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
